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Items: 13

1.
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest
Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang
Hum Mutat. 2022 Dec; 43(12): 1909–1920. Published online 2022 Aug 30. doi: 10.1002/humu.24448
PMCID:
PMC10087254
AbstractArticlePDF–6.1M
2.
Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest
Lingli Huang, Yu Wang, Fangting Lu, Qi Jin, Gaojie Song, Jingjuan Ji, Lihua Luo, Rentao Jin, Xianhong Tong
J Assist Reprod Genet. 2022 Mar; 39(3): 711–718. Published online 2022 Jan 28. doi: 10.1007/s10815-022-02412-4
PMCID:
PMC8995404
AbstractArticlePDF–1.4M
3.
Deubiquitination and Activation of the NLRP3 Inflammasome by UCHL5 in HCV-Infected Cells
Akshaya Ramachandran, Binod Kumar, Gulam Waris, David Everly
Microbiol Spectr. 2021 Jul-Aug; 9(1): 10.1128/spectrum.00755-21. Published online 2021 Aug 25. doi: 10.1128/spectrum.00755-21
PMCID:
PMC8552718
AbstractArticlePDF–2.2M
4.
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
Angela Sparago, Ankit Verma, Maria Grazia Patricelli, Laura Pignata, Silvia Russo, Luciano Calzari, Naomi De Francesco, Rosita Del Prete, Orazio Palumbo, Massimo Carella, Deborah J. G. Mackay, Faisal I. Rezwan, Claudia Angelini, Flavia Cerrato, Maria Vittoria Cubellis, Andrea Riccio
Clin Epigenetics. 2019; 11: 190. Published online 2019 Dec 11. doi: 10.1186/s13148-019-0760-8
PMCID:
PMC6907351
AbstractArticlePDF–1.4M
5.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
6.
The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation
Tyler B Faust, Yang Li, Curtis W Bacon, Gwendolyn M Jang, Amit Weiss, Bhargavi Jayaraman, Billy W Newton, Nevan J Krogan, Iván D'Orso, Alan D Frankel
eLife. 2018; 7: e31879. Published online 2018 May 30. doi: 10.7554/eLife.31879
PMCID:
PMC5999396
AbstractArticlePDF–3.6M
7.
Panorama of ancient metazoan macromolecular complexes
Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili
Nature. Author manuscript; available in PMC 2016 Sep 26.
Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877
PMCID:
PMC5036527
AbstractArticlePDF–4.7M
8.
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
Louise E. Docherty, Faisal I. Rezwan, Rebecca L. Poole, Claire L. S. Turner, Emma Kivuva, Eamonn R. Maher, Sarah F. Smithson, Julian P. Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaroslaw Peregud-Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma Baple, Sahar Mansour, I. Karen Temple, Deborah J. G. Mackay
Nat Commun. 2015; 6: 8086. Published online 2015 Sep 1. doi: 10.1038/ncomms9086
PMCID:
PMC4568303
AbstractArticlePDF–499K
9.
The role of MATER in endoplasmic reticulum distribution and calcium homeostasis in mouse oocytes
Boram Kim, Xuesen Zhang, Rui Kan, Roy Cohen, Chinatsu Mukai, Alexander J. Travis, Scott A. Coonrod
Dev Biol. Author manuscript; available in PMC 2015 Feb 15.
Published in final edited form as: Dev Biol. 2014 Feb 15; 386(2): 331–339. Published online 2013 Dec 25. doi: 10.1016/j.ydbio.2013.12.025
PMCID:
PMC3960596
AbstractArticlePDF–908K
10.
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease
Anne Rovelet-Lecrux, Solenn Legallic, David Wallon, Jean-Michel Flaman, Olivier Martinaud, Stéphanie Bombois, Adeline Rollin-Sillaire, Agnès Michon, Isabelle Le Ber, Jérémie Pariente, Michèle Puel, Claire Paquet, Bernard Croisile, Catherine Thomas-Antérion, Martine Vercelletto, Richard Lévy, Thierry Frébourg, Didier Hannequin, Dominique Campion, Investigators of the GMAJ project
Eur J Hum Genet. 2012 Jun; 20(6): 613–617. Published online 2011 Dec 14. doi: 10.1038/ejhg.2011.225
PMCID:
PMC3355247
AbstractArticlePDF–330K
11.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
12.
A large-scale candidate-gene association study of age at menarche and age at natural menopause
Chunyan He, Peter Kraft, Daniel I. Chasman, Julie E. Buring, Constance Chen, Susan E. Hankinson, Guillaume Paré, Stephen Chanock, Paul M. Ridker, David J. Hunter
Hum Genet. Author manuscript; available in PMC 2010 Nov 1.
Published in final edited form as: Hum Genet. 2010 Nov; 128(5): 515–527. Published online 2010 Aug 24. doi: 10.1007/s00439-010-0878-4
PMCID:
PMC2967297
AbstractArticlePDF–84K
13.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M

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